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病例报告：迟发性17-α羟化酶缺乏症的管理挑战

Case report: Management challenges of late diagnosed 17-alpha hydroxylase deficiency.

作者信息

Ben Salah Dhoha, Trimeche Oumeyma, Elleuch Mouna, El Abed Wafa, Salah Ameni, Abdelhadi Fatma, Kammoun Hassen, Feki Wiem, Mnif Zeineb, Chaabouni Khansa, Ayedi Fatma, Mnif Fatma, Rekik Nabila, Mnif Mouna, Charfi Nadia, Hadj Kacem Faten, Abid Mohamed

机构信息

Department of Endocrinology Hedi Chaker Hospital Sfax Tunisia.

Department of Human Molecular Genetics, Faculty of Medicine Sfax Tunisia.

出版信息

Clin Case Rep. 2023 Feb 21;11(2):e6962. doi: 10.1002/ccr3.6962. eCollection 2023 Feb.

DOI:10.1002/ccr3.6962
PMID:36846181
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9944042/
Abstract

Herein we report the intriguing case of a 42-year-old woman presenting with grade three hypertension, severe hypokalemia and primary amenorrhea, which revealed to be the complete form of 17 alphahydroxylase deficiency. We also discuss the challenging therapeutic approach as well as the outcomes and the follow-up of this patient.

摘要

在此，我们报告了一例42岁女性的有趣病例，该患者患有三级高血压、严重低钾血症和原发性闭经，结果显示为完全型17α-羟化酶缺乏症。我们还讨论了针对该患者具有挑战性的治疗方法以及治疗结果和随访情况。

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J Int Med Res. 2021 Mar;49(3):300060521993965. doi: 10.1177/0300060521993965.
2
Incidental diagnosis of 17 alpha-hydroxylase deficiency: a case report.17α-羟化酶缺乏症的偶然诊断：一例报告
Oxf Med Case Reports. 2020 Dec 5;2020(12):omaa108. doi: 10.1093/omcr/omaa108. eCollection 2020 Dec.
3
Male Gender Identity and Reversible Hypokalemic Hypertension in a 46,XX Child with 11-Beta-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.
一名患有11-β-羟化酶缺乏型先天性肾上腺皮质增生症的46,XX儿童的男性性别认同与可逆性低钾性高血压
Cureus. 2019 Jul 26;11(7):e5248. doi: 10.7759/cureus.5248.
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Endocr Pract. 2017 May;23(5):576-582. doi: 10.4158/EP161610.OR. Epub 2017 Feb 22.
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